Mutagenetix > Incidental Mutation

Incidental Mutation 'R7395:Mpo'

573762

Institutional Source

Beutler Lab

Gene Symbol

Mpo

Ensembl Gene

ENSMUSG00000009350

Gene Name

myeloperoxidase

Synonyms

MMRRC Submission

045477-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7395 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

87793581-87804413 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 87801124 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 461 (D461G)

Ref Sequence

ENSEMBL: ENSMUSP00000020779 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020779] [ENSMUST00000107930] [ENSMUST00000121303] [ENSMUST00000146650]

AlphaFold

P11247

Predicted Effect

probably damaging
Transcript: ENSMUST00000020779
AA Change: D461G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000020779
Gene: ENSMUSG00000009350
AA Change: D461G

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Pfam:An_peroxidase	147	692	4.2e-183	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000107930

SMART Domains

Protein: ENSMUSP00000103563
Gene: ENSMUSG00000009350

Domain	Start	End	E-Value	Type
SCOP:g1cxp.1	82	99	1e-5	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000121303
AA Change: D461G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000112837
Gene: ENSMUSG00000009350
AA Change: D461G

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Pfam:An_peroxidase	147	692	4.2e-183	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000146650

SMART Domains

Protein: ENSMUSP00000128484
Gene: ENSMUSG00000009350

Domain	Start	End	E-Value	Type
Pfam:An_peroxidase	1	112	2.4e-32	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

99% (92/93)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Myeloperoxidase (MPO) is a heme protein synthesized during myeloid differentiation that constitutes the major component of neutrophil azurophilic granules. Produced as a single chain precursor, myeloperoxidase is subsequently cleaved into a light and heavy chain. The mature myeloperoxidase is a tetramer composed of 2 light chains and 2 heavy chains. This enzyme produces hypohalous acids central to the microbicidal activity of neutrophils. [provided by RefSeq, Nov 2014]
PHENOTYPE: Homozygous inactivation of this gene causes neutrophil dysfunction and decreased resistance to fungal infection with Candida, and may lead to enhanced atherosclerosis, reduced neutrophil-mediated lysis of muscle cells, decreased resistance to EAE, and altered asbestos-induced lung inflammation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3830403N18Rik	G	T	X: 56,138,780 (GRCm38)		probably null	Het
4930433I11Rik	A	T	7: 40,989,678 (GRCm38)	T13S	probably damaging	Het
Abca13	A	G	11: 9,291,658 (GRCm38)	I1174V	probably benign	Het
Acoxl	G	A	2: 127,884,416 (GRCm38)	V237M	probably damaging	Het
Adam33	A	C	2: 131,061,169 (GRCm38)	W52G	probably benign	Het
Adgrv1	T	C	13: 81,559,348 (GRCm38)	H1313R	probably damaging	Het
Ap3d1	T	C	10: 80,730,882 (GRCm38)	T89A	probably benign	Het
Armc8	T	C	9: 99,533,132 (GRCm38)	E165G	probably damaging	Het
Atp6v1c1	T	C	15: 38,691,705 (GRCm38)	*383Q	probably null	Het
Atp8b4	A	T	2: 126,375,694 (GRCm38)	L634Q	possibly damaging	Het
B3glct	A	G	5: 149,725,604 (GRCm38)		probably null	Het
Bhlhe40	TG	TGG	6: 108,664,857 (GRCm38)	254	probably null	Het
Bicd2	A	G	13: 49,378,230 (GRCm38)	D316G	possibly damaging	Het
Bop1	A	T	15: 76,453,841 (GRCm38)	S610T	probably damaging	Het
Car11	T	A	7: 45,701,321 (GRCm38)	Y80*	probably null	Het
Ccdc96	T	C	5: 36,485,265 (GRCm38)	I205T	probably benign	Het
Ces2a	A	G	8: 104,739,641 (GRCm38)	E390G	probably benign	Het
Cfap54	C	A	10: 92,884,703 (GRCm38)	V2630L	unknown	Het
Chek2	G	T	5: 110,872,108 (GRCm38)		probably null	Het
Cntn3	C	T	6: 102,337,394 (GRCm38)		probably null	Het
Cpne3	A	T	4: 19,528,239 (GRCm38)	D339E	probably damaging	Het
Crocc2	C	T	1: 93,216,107 (GRCm38)	Q1403*	probably null	Het
Csnka2ip	G	A	16: 64,479,440 (GRCm38)	T187I		Het
Ctu1	A	G	7: 43,676,595 (GRCm38)	H226R	possibly damaging	Het
Cubn	G	T	2: 13,287,064 (GRCm38)	Q3317K	probably damaging	Het
Cyp17a1	A	G	19: 46,670,695 (GRCm38)	L169P	probably benign	Het
Dcc	T	A	18: 71,374,569 (GRCm38)	K911*	probably null	Het
Dcun1d2	G	A	8: 13,278,675 (GRCm38)	R75*	probably null	Het
Defb19	A	T	2: 152,580,023 (GRCm38)		probably null	Het
Dffb	A	T	4: 153,969,113 (GRCm38)	S257R	probably damaging	Het
Dip2c	A	C	13: 9,614,377 (GRCm38)	N942T	probably damaging	Het
Dnah3	T	C	7: 120,060,960 (GRCm38)	M830V	probably benign	Het
Dnah3	T	A	7: 119,966,251 (GRCm38)	I169F		Het
Dnajc5g	G	A	5: 31,111,665 (GRCm38)	S130N	possibly damaging	Het
Dscaml1	C	A	9: 45,702,405 (GRCm38)	Q939K	possibly damaging	Het
Evpl	G	C	11: 116,227,079 (GRCm38)	N761K	possibly damaging	Het
Fbxw8	A	T	5: 118,068,215 (GRCm38)	I556N	probably damaging	Het
Fry	G	T	5: 150,380,883 (GRCm38)	M579I	possibly damaging	Het
Ggt7	A	T	2: 155,495,880 (GRCm38)	M488K	probably benign	Het
Gm6588	A	T	5: 112,450,169 (GRCm38)	E194V	possibly damaging	Het
Gnpnat1	T	A	14: 45,381,581 (GRCm38)	H107L	probably benign	Het
Golga2	C	A	2: 32,305,587 (GRCm38)	P798Q	possibly damaging	Het
Gpr35	G	A	1: 92,983,207 (GRCm38)	A214T	probably damaging	Het
Greb1	A	T	12: 16,709,430 (GRCm38)		probably null	Het
Hdac10	G	A	15: 89,128,284 (GRCm38)	T32I	probably benign	Het
Hkdc1	G	A	10: 62,385,699 (GRCm38)	T860I	probably damaging	Het
Icam5	C	A	9: 21,035,442 (GRCm38)	P422Q	possibly damaging	Het
Ispd	A	T	12: 36,501,995 (GRCm38)	I283F	possibly damaging	Het
Ist1	A	C	8: 109,677,527 (GRCm38)	S238A	probably benign	Het
Lrig2	T	C	3: 104,497,520 (GRCm38)	N91D	probably benign	Het
Mapt	A	C	11: 104,328,123 (GRCm38)	D352A	probably damaging	Het
Micall2	G	A	5: 139,716,369 (GRCm38)	P373L	possibly damaging	Het
Mocs1	A	G	17: 49,454,557 (GRCm38)	S560G	possibly damaging	Het
Myo1a	G	T	10: 127,710,440 (GRCm38)	V271L	probably damaging	Het
Ncoa1	G	A	12: 4,295,188 (GRCm38)	P720S	not run	Het
Ncr1	T	A	7: 4,338,151 (GRCm38)	I47N	probably damaging	Het
Ndufb6	G	A	4: 40,277,730 (GRCm38)	R66C	probably damaging	Het
Obox5	A	T	7: 15,758,743 (GRCm38)	S208C	probably damaging	Het
Olfr136	A	T	17: 38,335,864 (GRCm38)	K236*	probably null	Het
Olfr1494	T	C	19: 13,749,138 (GRCm38)	S11P	probably damaging	Het
Olfr39	T	A	9: 20,286,530 (GRCm38)	M285K	probably damaging	Het
Olfr501-ps1	T	A	7: 108,508,404 (GRCm38)	F116Y	unknown	Het
Padi4	A	C	4: 140,761,672 (GRCm38)	V152G	probably damaging	Het
Pdzd7	A	T	19: 45,037,011 (GRCm38)	D348E	probably damaging	Het
Pdzph1	T	A	17: 58,879,159 (GRCm38)	K1212N	possibly damaging	Het
Piezo2	C	T	18: 63,027,563 (GRCm38)	G2341R	probably damaging	Het
Plb1	A	G	5: 32,353,684 (GRCm38)	K1298E	probably benign	Het
Prr14l	A	G	5: 32,828,638 (GRCm38)	L1171P	probably benign	Het
Rab11fip5	T	C	6: 85,341,868 (GRCm38)	T680A	probably benign	Het
Rev1	A	T	1: 38,088,065 (GRCm38)	N371K	possibly damaging	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,579,926 (GRCm38)		probably benign	Het
Ryr2	A	G	13: 11,785,111 (GRCm38)	C917R	probably damaging	Het
Sall1	A	T	8: 89,030,921 (GRCm38)	S852T	possibly damaging	Het
Serpine2	A	G	1: 79,801,555 (GRCm38)	F296L	probably damaging	Het
Slc12a6	A	T	2: 112,352,542 (GRCm38)	N754I	probably damaging	Het
Slc39a6	A	T	18: 24,585,275 (GRCm38)	L575Q	probably damaging	Het
Smarcc2	T	A	10: 128,485,606 (GRCm38)	L890Q	probably damaging	Het
Smg5	T	A	3: 88,361,071 (GRCm38)	V1006D	probably damaging	Het
Ssh2	T	C	11: 77,393,073 (GRCm38)	V51A	probably damaging	Het
St14	T	C	9: 31,096,899 (GRCm38)	K547E	probably benign	Het
Stag1	T	G	9: 100,796,728 (GRCm38)	V234G	probably damaging	Het
Stag3	A	T	5: 138,281,945 (GRCm38)	Q24L	probably benign	Het
Stra6	T	C	9: 58,141,097 (GRCm38)	Y158H	probably damaging	Het
Tcstv1	A	T	13: 119,894,130 (GRCm38)		probably null	Het
Tmem196	G	A	12: 120,011,267 (GRCm38)	C62Y	probably damaging	Het
Tmem265	T	A	7: 127,564,867 (GRCm38)	F84L		Het
Tph1	C	T	7: 46,657,203 (GRCm38)		probably null	Het
Ttn	A	G	2: 76,946,490 (GRCm38)	I1522T	unknown	Het
Ulk4	T	A	9: 121,255,112 (GRCm38)	Q129L	probably benign	Het
Usp17la	T	A	7: 104,861,585 (GRCm38)	S466T	probably benign	Het
Vmn2r31	A	T	7: 7,384,745 (GRCm38)	V609E	probably damaging	Het
Vmn2r52	C	T	7: 10,170,817 (GRCm38)	C365Y	probably benign	Het
Zbtb4	A	T	11: 69,776,111 (GRCm38)	T81S	possibly damaging	Het
Zfp605	A	T	5: 110,112,019 (GRCm38)		probably benign	Het

Other mutations in Mpo

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00340:Mpo	APN	11	87,802,617 (GRCm38)	missense	probably benign
IGL00668:Mpo	APN	11	87,797,334 (GRCm38)	missense	probably benign	0.01
IGL01016:Mpo	APN	11	87,797,610 (GRCm38)	splice site	probably null
IGL01517:Mpo	APN	11	87,795,821 (GRCm38)	missense	possibly damaging	0.83
IGL01530:Mpo	APN	11	87,801,191 (GRCm38)	missense	probably benign	0.00
IGL02123:Mpo	APN	11	87,794,795 (GRCm38)	missense	probably benign	0.05
BB001:Mpo	UTSW	11	87,794,840 (GRCm38)	missense	probably damaging	1.00
BB011:Mpo	UTSW	11	87,794,840 (GRCm38)	missense	probably damaging	1.00
R0091:Mpo	UTSW	11	87,801,610 (GRCm38)	missense	probably benign	0.06
R0458:Mpo	UTSW	11	87,796,297 (GRCm38)	missense	probably benign	0.35
R0506:Mpo	UTSW	11	87,803,504 (GRCm38)	missense	probably benign	0.00
R0574:Mpo	UTSW	11	87,796,076 (GRCm38)	missense	probably damaging	0.99
R0850:Mpo	UTSW	11	87,797,502 (GRCm38)	missense	probably damaging	1.00
R1488:Mpo	UTSW	11	87,797,430 (GRCm38)	missense	probably damaging	1.00
R1753:Mpo	UTSW	11	87,795,881 (GRCm38)	missense	probably benign	0.06
R1785:Mpo	UTSW	11	87,797,361 (GRCm38)	missense	possibly damaging	0.90
R1891:Mpo	UTSW	11	87,801,280 (GRCm38)	nonsense	probably null
R1989:Mpo	UTSW	11	87,803,472 (GRCm38)	missense	probably damaging	1.00
R2107:Mpo	UTSW	11	87,796,075 (GRCm38)	missense	probably damaging	1.00
R2108:Mpo	UTSW	11	87,796,075 (GRCm38)	missense	probably damaging	1.00
R2130:Mpo	UTSW	11	87,797,361 (GRCm38)	missense	possibly damaging	0.90
R2132:Mpo	UTSW	11	87,797,361 (GRCm38)	missense	possibly damaging	0.90
R3930:Mpo	UTSW	11	87,801,040 (GRCm38)	missense	probably damaging	1.00
R3931:Mpo	UTSW	11	87,801,040 (GRCm38)	missense	probably damaging	1.00
R3941:Mpo	UTSW	11	87,797,349 (GRCm38)	missense	probably benign	0.02
R4323:Mpo	UTSW	11	87,796,039 (GRCm38)	missense	probably damaging	1.00
R4857:Mpo	UTSW	11	87,796,281 (GRCm38)	missense	probably benign
R4892:Mpo	UTSW	11	87,802,681 (GRCm38)	missense	probably benign	0.00
R5224:Mpo	UTSW	11	87,796,457 (GRCm38)	unclassified	probably benign
R5250:Mpo	UTSW	11	87,803,433 (GRCm38)	missense	probably benign	0.03
R5373:Mpo	UTSW	11	87,803,611 (GRCm38)	critical splice donor site	probably null
R5374:Mpo	UTSW	11	87,803,611 (GRCm38)	critical splice donor site	probably null
R5408:Mpo	UTSW	11	87,801,025 (GRCm38)	splice site	probably null
R5708:Mpo	UTSW	11	87,801,755 (GRCm38)	splice site	probably null
R6354:Mpo	UTSW	11	87,797,346 (GRCm38)	missense	possibly damaging	0.89
R6598:Mpo	UTSW	11	87,799,972 (GRCm38)	missense	probably benign	0.43
R6713:Mpo	UTSW	11	87,795,368 (GRCm38)	missense	probably damaging	1.00
R7053:Mpo	UTSW	11	87,803,510 (GRCm38)	missense	probably damaging	0.99
R7573:Mpo	UTSW	11	87,797,577 (GRCm38)	missense	probably benign	0.01
R7924:Mpo	UTSW	11	87,794,840 (GRCm38)	missense	probably damaging	1.00
R8152:Mpo	UTSW	11	87,801,649 (GRCm38)	missense	probably benign
R8285:Mpo	UTSW	11	87,797,567 (GRCm38)	missense	probably benign	0.05
R8776:Mpo	UTSW	11	87,802,712 (GRCm38)	missense	possibly damaging	0.50
R8776-TAIL:Mpo	UTSW	11	87,802,712 (GRCm38)	missense	possibly damaging	0.50
R8807:Mpo	UTSW	11	87,796,339 (GRCm38)	missense	probably benign	0.05
R8829:Mpo	UTSW	11	87,803,424 (GRCm38)	missense	probably damaging	1.00
R9037:Mpo	UTSW	11	87,797,731 (GRCm38)	unclassified	probably benign
R9272:Mpo	UTSW	11	87,795,867 (GRCm38)	missense	probably benign	0.01
R9535:Mpo	UTSW	11	87,799,968 (GRCm38)	missense	probably damaging	1.00
R9746:Mpo	UTSW	11	87,803,523 (GRCm38)	missense	probably benign
RF018:Mpo	UTSW	11	87,797,639 (GRCm38)	missense	probably damaging	1.00
Z1088:Mpo	UTSW	11	87,795,245 (GRCm38)	missense	probably benign	0.06

Predicted Primers

PCR Primer
(F):5'- ACTATGGGAGACTGATCCTAGC -3'
(R):5'- ACCATCCCATCATTAGCTGC -3'

Sequencing Primer
(F):5'- ACTGATCCTAGCCAGGTAGG -3'
(R):5'- GCTGGCTTTTCTTAGGTTCCATTCAC -3'

Posted On

2019-09-13